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Results for the Protein: NP_001121164
189095269

propionyl-CoA carboxylase alpha chain, mitochondrial isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  PROPIONIC ACIDEMIA
2
1
2
1
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

PycA - COG1038
COG4770 - COG4770
DdlA - COG1181
AccC - COG0439
CPSase_L_chain - pfam00289
CarB - COG0458
RimK - pfam08443
CPSase_L_D2 - pfam02786
Dala_Dala_lig_C - pfam07478
Biotin_carb_C - pfam02785
Biotin_carb_C - smart00878
AccB - COG0511
Biotin_lipoyl - pfam00364
lipoyl_domain - cd06849
biotinyl_domain - cd06850
Biotinyl_lipoyl_doma - cd06663




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AccCCOG04395e-23536484
DdlACOG11810.0002536352
CarBCOG04583.6e-0639427
AccBCOG05113.1e-13540702
lipoyl_domaincd068491.1e-07634701
Biotinyl_lipoyl_domacd066631.9e-10635701
biotinyl_domaincd068502.1e-33635701
COG4770COG477036702
CPSase_L_chainpfam002895.1e-6937145
CPSase_L_D2pfam027866.5e-132150359
Biotin_carb_Cpfam027851.3e-57371479
Biotin_lipoylpfam003644.2e-29634701
RimKpfam084430.00019148351
Dala_Dala_lig_Cpfam074786.5e-05157349
Biotin_carb_Csmart008789.8e-56371479

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs16957356 Polymorphismp.SER556LEUN/A
OMIM232000.0004 Diseasep.ARG262TERPROPIONIC ACIDEMIA
OMIM232000.0005 Diseasep.MET322LYSPROPIONIC ACIDEMIA



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